Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54587
Gene name	Matrix remodeling associated 8
Gene symbol	MXRA8
Synonyms (NCBI Gene)	ASP3
Chromosome	1
Chromosome location	1p36.33

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374879755	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018682	hsa-miR-335-5p	Microarray	18185580
MIRT482925	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT482923	hsa-miR-4717-5p	PAR-CLIP	23592263
MIRT482924	hsa-miR-1972	PAR-CLIP	23592263
MIRT482922	hsa-miR-6761-5p	PAR-CLIP	23592263
MIRT482921	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT482920	hsa-miR-196a-3p	PAR-CLIP	23592263
MIRT482919	hsa-miR-3688-5p	PAR-CLIP	23592263
MIRT482925	hsa-miR-6768-5p	PAR-CLIP	23592263
MIRT482923	hsa-miR-4717-5p	PAR-CLIP	23592263
MIRT482924	hsa-miR-1972	PAR-CLIP	23592263
MIRT482922	hsa-miR-6761-5p	PAR-CLIP	23592263
MIRT482921	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT482920	hsa-miR-196a-3p	PAR-CLIP	23592263
MIRT482919	hsa-miR-3688-5p	PAR-CLIP	23592263
MIRT1167191	hsa-miR-1182	CLIP-seq
MIRT1167192	hsa-miR-1207-5p	CLIP-seq
MIRT1167193	hsa-miR-1227	CLIP-seq
MIRT1167194	hsa-miR-1301	CLIP-seq
MIRT1167195	hsa-miR-3136-3p	CLIP-seq
MIRT1167196	hsa-miR-3154	CLIP-seq
MIRT1167197	hsa-miR-3192	CLIP-seq
MIRT1167198	hsa-miR-323b-5p	CLIP-seq
MIRT1167199	hsa-miR-331-3p	CLIP-seq
MIRT1167200	hsa-miR-3612	CLIP-seq
MIRT1167201	hsa-miR-3616-3p	CLIP-seq
MIRT1167202	hsa-miR-3911	CLIP-seq
MIRT1167203	hsa-miR-3918	CLIP-seq
MIRT1167204	hsa-miR-3944-5p	CLIP-seq
MIRT1167205	hsa-miR-4253	CLIP-seq
MIRT1167206	hsa-miR-4292	CLIP-seq
MIRT1167207	hsa-miR-4443	CLIP-seq
MIRT1167208	hsa-miR-4455	CLIP-seq
MIRT1167209	hsa-miR-4649-3p	CLIP-seq
MIRT1167210	hsa-miR-4651	CLIP-seq
MIRT1167211	hsa-miR-4660	CLIP-seq
MIRT1167212	hsa-miR-4721	CLIP-seq
MIRT1167213	hsa-miR-4755-3p	CLIP-seq
MIRT1167214	hsa-miR-4761-3p	CLIP-seq
MIRT1167215	hsa-miR-4763-3p	CLIP-seq
MIRT1167216	hsa-miR-5047	CLIP-seq
MIRT1167217	hsa-miR-541	CLIP-seq
MIRT1167218	hsa-miR-608	CLIP-seq
MIRT1167219	hsa-miR-650	CLIP-seq
MIRT1167220	hsa-miR-654-5p	CLIP-seq
MIRT1167221	hsa-miR-665	CLIP-seq
MIRT1551469	hsa-miR-188-3p	CLIP-seq
MIRT1551470	hsa-miR-3943	CLIP-seq
MIRT1551471	hsa-miR-4717-3p	CLIP-seq
MIRT1551472	hsa-miR-939	CLIP-seq
MIRT2048321	hsa-miR-3179	CLIP-seq
MIRT2048322	hsa-miR-3202	CLIP-seq
MIRT2048323	hsa-miR-342-5p	CLIP-seq
MIRT2048324	hsa-miR-4533	CLIP-seq
MIRT2048325	hsa-miR-4664-5p	CLIP-seq
MIRT2048321	hsa-miR-3179	CLIP-seq
MIRT2048322	hsa-miR-3202	CLIP-seq
MIRT2277204	hsa-miR-361-3p	CLIP-seq
MIRT1167206	hsa-miR-4292	CLIP-seq
MIRT2048324	hsa-miR-4533	CLIP-seq
MIRT2277205	hsa-miR-508-5p	CLIP-seq
MIRT2277206	hsa-miR-766	CLIP-seq
MIRT2391213	hsa-miR-1297	CLIP-seq
MIRT2391214	hsa-miR-214	CLIP-seq
MIRT2391215	hsa-miR-26a	CLIP-seq
MIRT2391216	hsa-miR-26b	CLIP-seq
MIRT2391217	hsa-miR-3150a-3p	CLIP-seq
MIRT2391218	hsa-miR-3175	CLIP-seq
MIRT2391219	hsa-miR-3619-5p	CLIP-seq
MIRT2391220	hsa-miR-4291	CLIP-seq
MIRT1167206	hsa-miR-4292	CLIP-seq
MIRT2391221	hsa-miR-4308	CLIP-seq
MIRT2391222	hsa-miR-4465	CLIP-seq
MIRT2391223	hsa-miR-4667-5p	CLIP-seq
MIRT2391224	hsa-miR-4700-5p	CLIP-seq
MIRT2391225	hsa-miR-761	CLIP-seq
MIRT2391226	hsa-miR-922	CLIP-seq
MIRT1551472	hsa-miR-939	CLIP-seq
MIRT2454648	hsa-miR-3065-3p	CLIP-seq
MIRT2454649	hsa-miR-4459	CLIP-seq
MIRT2454650	hsa-miR-4481	CLIP-seq
MIRT2454651	hsa-miR-4514	CLIP-seq
MIRT2454652	hsa-miR-4648	CLIP-seq
MIRT2454653	hsa-miR-4692	CLIP-seq
MIRT2454654	hsa-miR-4745-5p	CLIP-seq
MIRT1167221	hsa-miR-665	CLIP-seq
MIRT2454655	hsa-miR-765	CLIP-seq
MIRT2576090	hsa-miR-1	CLIP-seq
MIRT2576091	hsa-miR-122	CLIP-seq
MIRT2576092	hsa-miR-206	CLIP-seq
MIRT2576093	hsa-miR-3909	CLIP-seq
MIRT2576094	hsa-miR-4260	CLIP-seq
MIRT2576095	hsa-miR-4283	CLIP-seq
MIRT2576096	hsa-miR-4328	CLIP-seq
MIRT2576097	hsa-miR-4489	CLIP-seq
MIRT2576098	hsa-miR-4502	CLIP-seq
MIRT2576099	hsa-miR-4691-5p	CLIP-seq
MIRT1167213	hsa-miR-4755-3p	CLIP-seq
MIRT2576100	hsa-miR-4762-3p	CLIP-seq
MIRT2576101	hsa-miR-613	CLIP-seq
MIRT1167221	hsa-miR-665	CLIP-seq
MIRT2576090	hsa-miR-1	CLIP-seq
MIRT1167191	hsa-miR-1182	CLIP-seq
MIRT2576091	hsa-miR-122	CLIP-seq
MIRT2685612	hsa-miR-150	CLIP-seq
MIRT2576092	hsa-miR-206	CLIP-seq
MIRT1167196	hsa-miR-3154	CLIP-seq
MIRT2277204	hsa-miR-361-3p	CLIP-seq
MIRT1167201	hsa-miR-3616-3p	CLIP-seq
MIRT2576093	hsa-miR-3909	CLIP-seq
MIRT2685613	hsa-miR-3922-5p	CLIP-seq
MIRT1551470	hsa-miR-3943	CLIP-seq
MIRT1167205	hsa-miR-4253	CLIP-seq
MIRT2576094	hsa-miR-4260	CLIP-seq
MIRT2576095	hsa-miR-4283	CLIP-seq
MIRT2576096	hsa-miR-4328	CLIP-seq
MIRT2685614	hsa-miR-4480	CLIP-seq
MIRT2576097	hsa-miR-4489	CLIP-seq
MIRT2576098	hsa-miR-4502	CLIP-seq
MIRT1167209	hsa-miR-4649-3p	CLIP-seq
MIRT2685615	hsa-miR-4650-5p	CLIP-seq
MIRT2576099	hsa-miR-4691-5p	CLIP-seq
MIRT2685616	hsa-miR-4713-5p	CLIP-seq
MIRT1167212	hsa-miR-4721	CLIP-seq
MIRT1167213	hsa-miR-4755-3p	CLIP-seq
MIRT1167214	hsa-miR-4761-3p	CLIP-seq
MIRT2576100	hsa-miR-4762-3p	CLIP-seq
MIRT2685617	hsa-miR-532-3p	CLIP-seq
MIRT2576101	hsa-miR-613	CLIP-seq
MIRT1167221	hsa-miR-665	CLIP-seq
MIRT2685618	hsa-miR-873	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS	14603461
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060857	Process	Establishment of glial blood-brain barrier	IEA
GO:0060857	Process	Establishment of glial blood-brain barrier	ISS	14603461
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
617293	7542	ENSG00000162576

Q9BRK3

Protein name

Matrix remodeling-associated protein 8 (Limitrin)

Protein function

Transmembrane protein which can modulate activity of various signaling pathways, probably via binding to integrin ITGAV:ITGB3 (PubMed:22492581, PubMed:23386276). Mediates heterophilic cell-cell interactions in vitro (By similarity). Inhibits ost

PDB

6JO8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	37 → 157	Immunoglobulin V-set domain	Domain
PF07686	V-set	169 → 292	Immunoglobulin V-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in endothelial cells in mammary tissue, in both large vessels (left internal mammary artery) and small capillaries (vasa vasorum of the adventitia). {ECO:0000269|PubMed:23386276}.

Sequence

MALPSRILLWKLVLLQSSAVLLHSGSSVPAAAGSSVVSESAVSWEAGARAVLRCQSPRMV
WTQDRLHDRQRVLHWDLRGPGGGPARRLLDLYSAGEQRVYEARDRGRLELSASAFDDGNF
SLLIRAVEETDAGLYTCNLHHHYCHLYESLAVRLEVTDGPPATPAYWDGEKEVLAVARGA
PALLTCVNRGHVWTDRHVEEAQQVVHWDRQPPGVPHDRADRLLDLYASGERRAYGPLFLR
DRVAVGADAFERGDFSLRIEPLEVADEGTYSCHLHHHYCGLHERRVFHLTVAEPHAEPPP
RGSPGNGSSHSGAPGPDPTLARGHNVINVIVPESRAHFFQQLGYVLATLLLFILLLVTVL
LAARRRRGGYEYSDQKSGKSKGKDVNLAEFAVAAGDQMLYRSEDIQLDYKNNILKERAEL
AHSPLPAKYIDLDKGFRKENCK

Sequence length

442

Interactions

View interactions

	KEGG		Reactome
	Virion - Flavivirus and Alphavirus		Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs374879755	RCV000454237	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MXRA8-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	36303457	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	36303457	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Stimulate	35281049	★★★★★ ★☆☆☆☆ Found in Text Mining only
HAIR AN syndrome	Stimulate	32974878	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Associate	36303457	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	36303457	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36303457	★★★★★ ★☆☆☆☆ Found in Text Mining only

MXRA8 (matrix remodeling associated 8)